Polymorphism in cytochrome P450 2E1 and interaction with other genetic risk factors and susceptibility to alcoholic liver cirrhosis

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 664, Issue 1-2, 2009, Pages 55-63

  Khan, Anwar Jamal ^a   Ruwali, Munindra ^a   Choudhuri, Gourdas ^b   Mathur, Neeraj ^a   Husain, Qayyum ^c   Parmar, Devendra ^a  

^a CSIR INDIAN INSTITUTE OF TOXICOLOGY RESEARCH   (India)

^b SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^c ALIGARH MUSLIM UNIVERSITY   (India)

Author keywords

Alcoholics; Cirrhosis; Cytochrome P450 2E1; Haplotype; Polymorphism

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; ALCOHOL; CYTOCHROME P450 2E1; GLUTATHIONE TRANSFERASE M1; REACTIVE OXYGEN METABOLITE;

ADULT; ALCOHOL CONSUMPTION; ALCOHOL LIVER CIRRHOSIS; ARTICLE; CASE CONTROL STUDY; CLINICAL MEDICINE; COMPARATIVE STUDY; CONTROLLED STUDY; DETOXIFICATION; DISEASE PREDISPOSITION; ENZYME POLYMORPHISM; GASTROENTEROLOGY; GENE; GENE INTERACTION; GENETIC RISK; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; INDIA; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK; RISK FACTOR;

ALCOHOLISM; ALLELES; CASE-CONTROL STUDIES; CYTOCHROME P-450 CYP2E1; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUTATHIONE TRANSFERASE; HAPLOTYPES; HUMANS; LIVER CIRRHOSIS; LIVER CIRRHOSIS, ALCOHOLIC; MALE; ODDS RATIO; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, GABA-A; RISK FACTORS;

EID: 65049084292     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2009.02.009     Document Type: Article

References (51)

1. Walsh K., and Alexander G. Alcoholic liver disease. Postgrad. Med. J. 76 (2000) 280-286
2. Choi J., and Ou J.-H.J. Mechanisms of liver injury. III. Oxidative stress in the pathogenesis of hepatitis C virus. Am. J. Physiol. Gastrointest. Liver Physiol. 290 (2006) G847-G851
3. Mann R.E., Smart R.G., and Govoni R. The epidemiology of alcoholic liver disease. Alcohol Res. Health 27 (2003) 209-219
4. Savolainen V.T., Perola M., Lalu K., Penttila A., Virtanen I., and Karhunen P.J. Early centrilobular fibrogenesis precirrhotic lesions among moderate alcohol consumers and chronic alcoholics. J. Hepatol. 23 (1995) 524-531
5. Takahashi T., Lasker J.M., Rosman A.S., and Lieber C.S. Induction of cytochrome P-4502E1 in the human liver by ethanol is caused by a corresponding increase in encoding messenger RNA. Hepatology 17 (1993) 236-245
6. Stickel F., and Osterreicher C.H. The role of genetic polymorphism in alcoholic liver disease. Alcohol Alcohol. 41 (2006) 209-224
7. Agundez J., Ladero M., Rubio D., and Benitez J. Rsa I polymorphism at the cytochrome P4502E1 locus is not related to the risk of alcohol-related severe liver disease. Liver 16 (1996) 380-383
8. Lucas D., Menez C., Floch F., Gourlaouen Y., Sparfel O., Joannet I., et al. Cytochromes P4502E1 and P4501A1 genotypes and susceptibility to cirrhosis or upper aerodigestive tract cancer in alcoholic Caucasians. Alcohol Clin. Exp. Res. 20 (1996) 1033-1037
9. Castillo T., Koop D.R., Kaminura S., Triadafilopoulos G., and Tsukamoto H. Role of cytochrome P-450 2E1 in ethanol-carbon tetrachloride- and iron-dependent microsomal lipid peroxidation. Hepatology 16 (1992) 992-996
10. Savolainen V.T., Pajarinen J., Perola M., Penttila A., and Karhunen P.J. Polymorphism in the cytochrome p4502E1 gene and risk of alcoholic liver disease. J. Hepatol. 26 (1997) 55-61
11. Vidal F., Lorenzo A., Auguet T., Olona M., Broch M., Gutierrez C., et al. Genetic polymorphisms of ADH2, ADH3, CYP4502E1 Dra-I and Pst-I, and ALDH2 in Spanish men: lack of association with alcoholism and alcoholic liver disease. J. Hepatol. 41 (2004) 744-750
12. Grove J., Brown A.S., Daly A.K., Bassendine M.F., James O.F., and Day C.P. The RsaI polymorphism of CYP2E1 and susceptibility to alcoholic liver disease in Caucasians: effect on age of presentation and dependence on alcohol dehydrogenase genotype. Pharmacogenetics 8 (1998) 335-342
13. Hayashi S., Watanabe J., and Kawajiri K. Genetic polymorphisms in the 5′-flanking region change transcriptional regulation of the human cytochrome P450IIE1 gene. J. Biochem. 110 (1991) 559-565
14. Tsutsumi M., Takada A., and Wang J.S. Genetic polymorphisms of cytochrome P4502E1 related to the development of alcoholic liver disease. Gastroenterology 107 (1994) 1430-1435
15. Parsian A., Clonigner C.R., and Zhang Z.H. Association of polymorphisms of CYP2E1 gene in alcoholics with cirrhosis, antisocial personality, and normal controls. Alcohol: Clin. Exp. Res. 22 (1998) 888-891
16. Pemble S.E., Wardle A.F., and Taylor J.B. Glutathione S-transferase class kappa: characterization by the cloning of rat mitochondrial GST and identification of a human homologue. Biochem. J. 319 (1996) 749-754
17. Parl F.F. Glutathione S-transferase genotypes and cancer risk. Cancer Lett. 221 2 (2005) 123-129
18. Savolainen V.T., Pajarinen J., Perola M., Penttila A., and Karhunen P.J. Glutathione-S-transferase GSTM 'null' genotype and the risk of alcoholic liver disease. Alcohol: Clin. Exp. Res. 20 (1996) 1340-1345
19. Ladero J.M., Martinez C., Garcia-Martin E., Fernández-Arquero M., López-Alonso G., and de la Concha E.G. Polymorphisms of the glutathione S-transferases mu-1 (GSTM1) and theta-1 (GSTT1) and the risk of advanced alcoholic liver disease. Scand. J. Gastroenterol. 40 (2005) 348-353
20. Whiting P., McKernan R.M., and Iversen L.L. Another mechanism for creating diversity in gamma-aminobutyrate type A receptors: RNA splicing directs expression of two forms of γ2 phosphorylation site. Proc. Natl. Acad. Sci. U.S.A. 87 (1990) 9966-9970
21. Wafford K.A., Burnett D.M., Leidenheimer N.J., Burt D.R., Wang J.B., Kofuji P., et al. Ethanol sensitivity of the GABAA receptor expressed in Xenopus oocytes requires 8 amino acids contained in the gamma2 subunit. Neuron 7 (1991) 27-33
22. A responses in cells stably transfected with receptor subunits. Alcohol Clin. Exp. Res. 19 (1995) 226-232
23. Lieber C.S. Alcohol and the liver update. Hepatology 106 (1994) 1085-1105
24. Kato S., Shields P.G., Caporaso N.F., Hoover R.N., Trump B.F., Sugimura H., Weston A., et al. Cytochrome P450IIE1 polymorphisms, racial variation and lung cancer risk. Cancer Res. 52 (1993) 6712-6715
25. Seidegaard J., Pero R.W., and Stille B. Identification of the trans-stilbene oxide-active glutathione transferase in human mononuclear leukocytes and in liver as GST1. Biochem. Genet. 27 3-4 (1989) 253-261
26. Sander T., Ball D., Murray R., Patel J., Samochowiec J., Winterer G., et al. Association analysis of sequence variants of the GABAA α6, β2, and γ2 gene cluster and alcohol dependence. Alcohol.: Clin. Exp. Res. 23 (1999) 427-431
27. Tanaka F., Shiratori Y., Yokosuka O., Imazeki F., Tsukada Y., and Omata M. Polymorphism of alcohol-metabolizing genes affects drinking behavior and alcoholic liver disease in Japanese men. Alcohol.: Clin. Exp. Res. 21 (1997) 596-601
28. Piao Y.F., Li J.T., and Shi Y. Relationship between genetic polymorphism of cytochrome P450IIE1 and fatty liver. World J. Gastroenterol. 9 (2003) 2612-2615
29. Pirmohamed M., Kitteringham N.R., Quest L.J., Allott R.L., Green V.J., and Gilmore I.T. Genetic polymorphism of cytochrome P4502E1 and risk of alcoholic liver disease in Caucasians. Pharmacogenetics 5 (1995) 351-357
30. Cichoz-Lach H., Partycka J., Nesina I., Celinski K., and Slomka M. The influence of genetic polymorphism of CYP2E1 on the development of alcohol liver cirrhosis. Wiad. Lek. 59 (2006) 757-761
31. Wong N.A.C.S., Rae F., Simpson K.J., Murray G.D., and Harrison D.J. Genetic polymorphism of cytochrome P4502E1 and susceptibility to alcoholic liver disease and hepatocellular carcinoma in a white population: a study and literature review, including meta-analysis. J. Clin. Pathol./Mol. Pathol. 53 (2000) 88-93
32. Loza A.J.M., Iglesias M.T.R., Diaz I.P., Castellanos S.C., Andrade C.G., Mora M.E.M., et al. Association of alcohol-metabolizing genes with alcoholism in a Mexican Indian (Otomi) population. Alcohol 39 (2006) 73-79
33. Baranov V.S., Ivaschenko T., Bakay B., Aseev M., Belotserkovskaya R., Baranova H., et al. Proportion of the GSTM1 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases. Hum. Genet. 97 (1996) 516-520
34. Harada S., Takase S., Horiike N., Ishii K., Ishii N., and Takada A. Genetic and epidemiologic studies on alcoholic liver diseases. Arukoru Kenkyuto Yakubutsu Ison 28 (1993) 400-413
35. Rodrigo L., Alvarez V., Rodriguez M., Perez R., Alvarez R., and Coto E. N-acetyltransferase-2, glutathione-S-transferase M1, alcohol dehydrogenase, and cytochrome P450IIE1 genotypes in alcoholic liver cirrhosis: a case-control study. Scand. J. Gastroenterol. 34 (1999) 303-307
36. Burim R.V., Canalle R., Martinelli Ade L., et al. Polymorphisms in glutathione S-transferases GSTM1 GSTT1 and GSTP1 and cytochromes P4502E1 and CYP1A1 and susceptibility to cirrhosis or pancreatitis in alcoholics. Mutagenesis 19 (2004) 291-298
37. Liu S., Park J.Y., Schantz S.P., Stern J.C., and Lazarus P. Elucidation of CYP2E1 5′ regulatory RsaI/PstI allelic variants and their role in risk for oral cancer. Oral oncol. 37 (2000) 437-445
38. Arand M., Muhlbauer R., Hengstler J., Jager E., Fuchs J., Winkler L., and Oesch F. A multiplex polymerase chain reaction for the simultaneous analysis of the glutathione S-transferase GSTM1 and GSTT1 polymorphisms. Anal. Biochem. 236 (1996) 184-186
39. Mittal R.D., Srivastava D.S., Mandhani A., and Mittal B. Genetic polymorphism of drug metabolizing enzymes (CYP2E1, GSTP1) and susceptibility to bladder cancer in North India. Asian Pac. J. Cancer Prev. 6 (2005) 6-9
40. Soya S.S., Padmaja N., and Adithan. Genetic polymorphism of CYP2E1 and GSTP1 in a South Indian population-comparisons with North India, Caucasians and Chinese. Asian Pac. J. Cancer Prev. 6 (2005) 315-319
41. Hildesheim A., Anderson L.M., Chen C.J., Cheng Y.J., Brinton L.A., Daly A.K., et al. CYP2E1 genetic polymorphisms and risk of nasopharyngeal carcinoma in Taiwan. J. Natl. Cancer Inst. 89 (1997) 1207-1212
42. Chao Y.C., Young T.H., Tang H.S., and Hsu C.T. Alcoholism and alcoholic organ damage and genetic polymorphisms of alcohol metabolizing enzymes in Chinese patients. Hepatology 25 (1997) 112-117
43. Garte S., Saspari L., Alexandrie A.K., Ambrosone C., Autrup H., Autrup J.L., et al. Metabolic gene polymorphism frequencies in control populations. Cancer Epidemiol., Biomarker Prev. 10 (2001) 1239-1248
44. Zintzaras E., Stefanidis I., Santos M., and Vidal F. Do alcohol-metabolizing enzyme gene polymorphisms increase the risk of alcoholism and alcoholic liver disease?. Hepatology 43 (2006) 352-361
45. Kato S., Shields P.G., Caporaso N.E., Sugimura H., Trivers G.E., Tucker M.A., et al. Analysis of cytochrome P450 2E1 genetic polymorphisms in relation to human lung cancer. Cancer Epidemiol. Biomarkers Prev. 3 (1994) 515-518
46. Wu X., Amos C.I., Kemp B.L., Shi H., Jiang H., Wan Y., et al. Cytochrome P450 2E1 DraI polymorphisms in lung cancer in minority populations. Cancer Epidemiol. Biomarkers Prev. 7 (1998) 13-18
47. Yu M.W., Gladek-Yarborough A., Chiamprasert S., Santella R.M., Liaw Y.F., and Chen C.J. Cytochrome P450 2E1 and glutathione S-transferase M1 polymorphisms and susceptibility to hepatocellular carcinoma. Gastroenterology 109 (1995) 1266-1273
48. Yang M., Tsuang J., and Wan Y.J.Y. A haplotype analysis of CYP2E1 polymorphisms in relation to alcoholic phenotypes in Mexican Americans. Alcohol.: Clin. Exp. Res. 31 (2007) 1991-2000
49. The Indian Genome Variation Consortium. The Indian Genome Variation database (IGVdb): a project overview". Hum. Genet. 118 (2005) 1-11
50. The Indian Genome Variation Consortium. Genetic landscape of the people of India: a canvas for disease gene exploration. J. Genet. 87 (2008) 3-20
51. Bassendine M.F., and Day C.P. The inheritance of alcoholic liver disease. Ballieres Clin. Gastroenterol. 12 (1998) 317-335